Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness - Concepedia

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Publication | Open Access

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

DOI Full Paper Access

88

Citations

19

References

2016

Year

Aman George, Dina J. Zand, Robert B. Hufnagel, Ruchi Sharma, Yuri V. Sergeev, Janet M. Legare, Gregory M. Rice, Jessica A. Scott Schwoerer, Mariana Rius, Laura H. Tetri,

The American Journal of Human Genetics

Biallelic MutationsMendelian DisorderDisease MechanismGenetic DisorderGeneticsPathogenesisHematologyPathologyDisease Gene IdentificationMitf Cause ColobomaMedicine

References

	Year	Citations

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